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Infants with Prader-Willi syndrome are tired and weak and have low muscle tone.
They don’t eat well, and as a result, they grow and develop slowly.
Once they reach childhood, their appetite goes into overdrive.
They eat and eat without ever feeling full.
Although this condition isnt curable, getting the right care early can lead to a better quality of life.
Signs and Symptoms of Prader-Willi Syndrome
Symptoms vary from person to person.
Some symptoms are mild while others are severe.
Once they begin to eat better, they will start to grow.
Intellectual andMotor Skills DelaysChildren with Prader-Willi syndrome often have developmental delays and intellectual disabilities that vary in severity.
These children are typically slower than their peers to reach milestones like walking and crawling.
They may be slow to speak, and struggle to speak clearly well into adulthood.
And they may have difficulty thinking and reasoning.
In those identified as female at birth, the clitoris and labia are typically smaller than usual.
Puberty often starts late.
Some girls with Prader-Willi syndrome don’t get their first period until age 30, or ever.
As a result of these changes, people with this condition may not be able to have children.
Chromosomes are the strands of DNA in each of our body’s cells.
They carry the genetic information needed for our bodies to develop and function.
Prader-Willi syndrome happens when a group of genes on chromosome 15 are missing or not working.
Imprinting means that the ability of the gene to be turned on depends on which parent it came from.
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How Is Prader-Willi Syndrome Diagnosed?
Newborns with hypotonia and poor sucking ability should get tested for Prader-Willi syndrome.
The process starts with a medical history and an exam to look for the classic symptoms.
And most people with this condition will need constant diet supervision to prevent overeating and weight gain.
Being treated early and continuing therapies can lead to a better quality of life.
This hormone has several effects on a childs growth.
It:
Children can start on growthhormone treatmentas early as age two to three months.
The sooner they start, the more hormonal treatment helps.
Adults may continue to take growth hormone, but at a lower dose.
These include:
Research and Statistics: Who Has Prader-Willi Syndrome?
The prevalence varies from country to country.
For example, between 1 in 16,062 and 1 in 25,000 Americans have Prader-Willi syndrome.
In Australia, the rate is 1 in 15,830 people.
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Prader-Willi syndrome affects males and females equally.
People of all races and ethnicities can get this condition.
Their hands and feet were of normal size, and their facial features didnt fit the norm for Prader-Willi.
The authors said these differences might make it harder to diagnose Prader-Willi syndrome in Black people.
The Foundation also hosts advocacy events and research symposiums.
Bhargavi Patham, MD, is board-certified in internal medicine as well as endocrinology, diabetes, and metabolism.
She is currently practicing academic medicine atHouston Methodist Hospitalin Texas.
Patham received her Bachelor of Medicine and Bachelor of Surgery degree from Government Medical College in Nagpur, India.
She completed her endocrinology, diabetes, and metabolism fellowship at the Baylor College of Medicine in Houston.
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